560 research outputs found
Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice
Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1-41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice
Observation of the Baryonic Flavor-Changing Neutral Current Decay Lambda_b -> Lambda mu+ mu-
We report the first observation of the baryonic flavor-changing neutral
current decay Lambda_b -> Lambda mu+ mu- with 24 signal events and a
statistical significance of 5.8 Gaussian standard deviations. This measurement
uses ppbar collisions data sample corresponding to 6.8fb-1 at sqrt{s}=1.96TeV
collected by the CDF II detector at the Tevatron collider. The total and
differential branching ratios for Lambda_b -> Lambda mu+ mu- are measured. We
find B(Lambda_b -> Lambda mu+ mu-) = [1.73+-0.42(stat)+-0.55(syst)] x 10^{-6}.
We also report the first measurement of the differential branching ratio of B_s
-> phi mu+ mu- using 49 signal events. In addition, we report branching ratios
for B+ -> K+ mu+ mu-, B0 -> K0 mu+ mu-, and B -> K*(892) mu+ mu- decays.Comment: 8 pages, 2 figures, 4 tables. Submitted to Phys. Rev. Let
Measurement of B(t->Wb)/B(t->Wq) at the Collider Detector at Fermilab
We present a measurement of the ratio of top-quark branching fractions R= B(t
-> Wb)/B(t -> Wq), where q can be a b, s or a d quark, using lepton-plus-jets
and dilepton data sets with integrated luminosity of ~162 pb^{-1} collected
with the Collider Detector at Fermilab during Run II of the Tevatron. The
measurement is derived from the relative numbers of t-tbar events with
different multiplicity of identified secondary vertices. We set a lower limit
of R > 0.61 at 95% confidence level.Comment: 7 pages, 2 figures, published in Physical Review Letters; changes
made to be consistent with published versio
Studying the Underlying Event in Drell-Yan and High Transverse Momentum Jet Production at the Tevatron
We study the underlying event in proton-antiproton collisions by examining
the behavior of charged particles (transverse momentum pT > 0.5 GeV/c,
pseudorapidity |\eta| < 1) produced in association with large transverse
momentum jets (~2.2 fb-1) or with Drell-Yan lepton-pairs (~2.7 fb-1) in the
Z-boson mass region (70 < M(pair) < 110 GeV/c2) as measured by CDF at 1.96 TeV
center-of-mass energy. We use the direction of the lepton-pair (in Drell-Yan
production) or the leading jet (in high-pT jet production) in each event to
define three regions of \eta-\phi space; toward, away, and transverse, where
\phi is the azimuthal scattering angle. For Drell-Yan production (excluding the
leptons) both the toward and transverse regions are very sensitive to the
underlying event. In high-pT jet production the transverse region is very
sensitive to the underlying event and is separated into a MAX and MIN
transverse region, which helps separate the hard component (initial and
final-state radiation) from the beam-beam remnant and multiple parton
interaction components of the scattering. The data are corrected to the
particle level to remove detector effects and are then compared with several
QCD Monte-Carlo models. The goal of this analysis is to provide data that can
be used to test and improve the QCD Monte-Carlo models of the underlying event
that are used to simulate hadron-hadron collisions.Comment: Submitted to Phys.Rev.
Measurement of the Production Cross Section and Search for Anomalous and Couplings in Collisions at TeV
This Letter describes the current most precise measurement of the boson
pair production cross section and most sensitive test of anomalous
and couplings in collisions at a center-of-mass energy of 1.96
TeV. The candidates are reconstructed from decays containing two charged
leptons and two neutrinos, where the charged leptons are either electrons or
muons. Using data collected by the CDF II detector from 3.6 fb of
integrated luminosity, a total of 654 candidate events are observed with an
expected background contribution of events. The measured total
cross section is pb, which is in good agreement
with the standard model prediction. The same data sample is used to place
constraints on anomalous and couplings.Comment: submitted to Phys. Rev. Let
Limits on Anomalous Triple Gauge Couplings in ppbar Collisions at sqrt{s}=1.96 TeV
We present a search for anomalous triple gauge couplings (ATGC) in WW and WZ
boson production. The boson pairs are produced in ppbar collisions at
sqrt{s}=1.96 TeV, and the data sample corresponds to 350 pb-1 of integrated
luminosity collected with the CDF II detector at the Fermilab Tevatron. In this
search one W decays to leptons, and the other boson (W or Z) decays
hadronically. Combining with a previously published CDF measurement of Wgamma
boson production yields ATGC limits of -0.18 < lambda < 0.17 and -0.46 < Delta
kappa < 0.39 at the 95% confidence level, using a cut-off scale Lambda=1.5 TeV.Comment: 7 pages, 3 figures. Submitted to Phys. Rev.
Precision measurement of the top quark mass from dilepton events at CDF II
We report a measurement of the top quark mass, M_t, in the dilepton decay
channel of
using an integrated luminosity of 1.0 fb^{-1} of p\bar{p} collisions collected
with the CDF II detector. We apply a method that convolutes a leading-order
matrix element with detector resolution functions to form event-by-event
likelihoods; we have enhanced the leading-order description to describe the
effects of initial-state radiation. The joint likelihood is the product of the
likelihoods from 78 candidate events in this sample, which yields a measurement
of M_{t} = 164.5 \pm 3.9(\textrm{stat.}) \pm 3.9(\textrm{syst.})
\mathrm{GeV}/c^2, the most precise measurement of M_t in the dilepton channel.Comment: 7 pages, 2 figures, version includes changes made prior to
publication by journa
Cross Section Measurements of High- Dilepton Final-State Processes Using a Global Fitting Method
We present a new method for studying high- dilepton events
(, , ) and simultaneously
extracting the production cross sections of , , and p\bar{p} \to \ztt at a center-of-mass energy of TeV. We perform a likelihood fit to the dilepton data in a parameter
space defined by the missing transverse energy and the number of jets in the
event. Our results, which use of data recorded with the CDF
II detector at the Fermilab Tevatron Collider, are pb, pb, and
\sigma(\ztt) =291^{+50}_{-46} pb.Comment: 20 pages, 2 figures, to be submitted to PRD-R
Search for ZZ and ZW Production in ppbar Collisions at sqrt(s) = 1.96 TeV
We present a search for ZZ and ZW vector boson pair production in ppbar
collisions at sqrt(s) = 1.96 TeV using the leptonic decay channels ZZ --> ll nu
nu, ZZ --> l l l' l' and ZW --> l l l' nu. In a data sample corresponding to an
integrated luminosity of 194 pb-1 collected with the Collider Detector at
Fermilab, 3 candidate events are found with an expected background of 1.0 +/-
0.2 events. We set a 95% confidence level upper limit of 15.2 pb on the cross
section for ZZ plus ZW production, compared to the standard model prediction of
5.0 +/- 0.4 pb.Comment: 7 pages, 2 figures. This version is accepted for publication by Phys.
Rev. D Rapid Communication
Measurement of CP-violation asymmetries in D0 to Ks pi+ pi-
We report a measurement of time-integrated CP-violation asymmetries in the
resonant substructure of the three-body decay D0 to Ks pi+ pi- using CDF II
data corresponding to 6.0 invfb of integrated luminosity from Tevatron ppbar
collisions at sqrt(s) = 1.96 TeV. The charm mesons used in this analysis come
from D*+(2010) to D0 pi+ and D*-(2010) to D0bar pi-, where the production
flavor of the charm meson is determined by the charge of the accompanying pion.
We apply a Dalitz-amplitude analysis for the description of the dynamic decay
structure and use two complementary approaches, namely a full Dalitz-plot fit
employing the isobar model for the contributing resonances and a
model-independent bin-by-bin comparison of the D0 and D0bar Dalitz plots. We
find no CP-violation effects and measure an asymmetry of ACP = (-0.05 +- 0.57
(stat) +- 0.54 (syst))% for the overall integrated CP-violation asymmetry,
consistent with the standard model prediction.Comment: 15 page
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